The UMD-TREAT_DMD mutations database
Ile to Deletion mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Ile543SerfsX40	c.1627delA	14	543	CRD-repeat #2		Small rearrangement	Fr.	Stop at 582	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12790 TNMD_JP#20120312-02 M JP 0
p.Ile665GlyfsX52	c.1993_2000del	17	665	CRD-repeat #3		Small rearrangement	Fr.	Stop at 716	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 14119 TNMD_PT#10 M PT 0
p.Ile728AsnfsX2	c.2183_2184delTA	18	728	CRD-repeat #4		Small rearrangement	Fr.	Stop at 729	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 430 TNMD_CA_DM#1 M CA 0
p.Ile1053PhefsX8	c.3157delA	23	1053	CRD-repeat #7		Small rearrangement	Fr.	Stop at 1060	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3064 TNMD_FR#F3432517601 M FR 0
p.Ile1444MetfsX12	c.4332_4335delTGAT	31	1444	CRD-repeat #10		Small rearrangement	Fr.	Stop at 1455	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3234 TNMD_FR#F757709011 M FR 0
p.Ile1757SerfsX24	c.5269delA	37	1757	CRD-repeat #13		Small rearrangement	Fr.	Stop at 1780	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3332 TNMD_FR#F751254211 M FR 0 3330 TNMD_FR#F751254111 M FR 0 3328 TNMD_FR#F751254011 M FR 0
p.Ile2370LysfsX30	c.7109delT	49	2370	CRD-repeat #19		Small rearrangement	Fr.	Stop at 2399	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13990 TNMD_PL#PL/2007-12-20/DMD/236 M PL 0
p.Ile2557PhefsX19	c.7669delA	53	2557	CRD-repeat #20		Small rearrangement	Fr.	Stop at 2575	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6468 TNMD_FR#F751205111 M FR 0 6466 TNMD_FR#F751205011 M FR 0
p.Ile2762LysfsX16	c.8285_8300del	56	2762	CRD-repeat #22		Small rearrangement	Fr.	Stop at 2777	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8392 TNMD_DE#47B95A6A-92A1-4F7 M DE 0
p.Ile3151LeufsX4	c.9451delA	65	3151	Cystein-rich domain		Small rearrangement	Fr.	Stop at 3154	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7183 TNMD_CN_HOSP#434 M CN 0